Canonical Allele Identifier: CA2687964300

Gene: INTS8

Linked Data

• gnomAD v4: 8-94827825-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827831del , CM000670.2:g.94827831del	GRCh38
NC_000008.10:g.95840059del , CM000670.1:g.95840059del	GRCh37
NC_000008.9:g.95909235del	NCBI36
NG_047163.1:g.19521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.518+38del MANE Select	ENSP00000430338.1:n.518+38del
ENST00000343161.8:c.518+38del	ENSP00000343274.4:n.518+38del
ENST00000519053.5:c.191+38del	ENSP00000429056.1:n.191+38del
ENST00000519457.5:c.377+38del	ENSP00000428260.1:n.377+38del
ENST00000521860.5:c.480+38del
ENST00000522171.5:c.395+38del	ENSP00000429340.1:n.395+38del
ENST00000523206.5:c.518+38del	ENSP00000429452.1:n.518+38del
ENST00000523321.5:n.643+38del
ENST00000523731.5:c.518+38del	ENSP00000430338.1:n.518+38del
ENST00000524333.5:c.518+38del	ENSP00000427840.1:n.518+38del
NM_017864.3:c.518+38del	NP_060334.2:n.518+38del
NR_073444.1:n.660+38del
NR_073445.1:n.660+38del
XM_006716602.2:c.518+38del	XP_006716665.1:n.518+38del
XM_006716603.2:c.191+38del	XP_006716666.1:n.191+38del
XM_011517155.1:c.395+38del	XP_011515457.1:n.395+38del
XM_011517156.1:c.518+38del	XP_011515458.1:n.518+38del
XM_011517157.1:c.191+38del	XP_011515459.1:n.191+38del
XM_017013616.1:c.518+38del	XP_016869105.1:n.518+38del
XM_017013617.1:c.518+38del	XP_016869106.1:n.518+38del
XM_017013618.1:c.191+38del	XP_016869107.1:n.191+38del
XM_017013619.1:c.-766+38del	XP_016869108.1:n.-766+38del
NM_017864.4:c.518+38del MANE Select	NP_060334.2:n.518+38del
NR_073444.2:n.663+38del
NR_073445.2:n.663+38del